Correcting a “Fatal” Misdiagnosis

A 52-year-old woman’s case came to the attention of Emory Special Diagnostic Services. An avid gardener, the woman had become so easily winded that she wasn’t able to work in the yard. She had been diagnosed by her doctors in the Midwest, where she lived with her husband, to have a rare and incurable malignancy associated with her heart —a cardiac leiomyosarcoma.

A so tissue cancer, leiomyosarcoma is unpredictable and can occur in smooth muscle cells anywhere in the body. It tends to be resistant to chemotherapy and radiation, and can lie dormant for years only to recur. e woman’s doctor told her there was nothing more he could do.

She told family and friends that she had terminal cancer and returned to her hometown of Augusta, Georgia, where her mother and siblings live, so they could help care for her. She began planning her own funeral.

Her sister, a research nurse, knew that Winship Cancer Institute had specialists in sarcoma and reached out to some of her Emory Healthcare contacts.

ey referred her to the new Special Diagnostic clinic, directed by Clyde Partin, an internist at Emory Clinic and an associate professor of medicine.

“ e intent of our clinic is to see patients with conditions that have been undiagnosed or misdiagnosed,” Partin says. “We do look for unusual and uncommon diseases but are more likely to nd typical diseases presenting in an atypical fashion.” For patients with a slew of seemingly unrelated symptoms, this means searching for a “unifying diagnosis.”

In this particular patient, clinic physicians discovered not cardiac leiomyosarcoma but several other conditions interacting to mimic cancer.

Any guess as to what these ailments were?

“ e outside imaging studies had been reviewed the day before she was seen, so our physicians were pleased to let the patient know at the beginning of her visit that we did not think she was harboring a cancer,” Partin says. e patient had two operations to x her gastrointestinal and cardiac problems and made a quick recovery. She’s back to doing things she enjoys and says she feels better than she has in a decade.

Physician Jon Masor, who supervised and coordinated the patient’s care, had reviewed her echocardiogram and CT images with colleagues and con rmed that she did not have a malignancy. Instead, she had a diaphragmatic hernia and an unusual type of aortic root aneurysm, associated with a patent foramen ovale (PFO), a hole between the le and right atria of the heart. ese two potentially serious but treatable conditions are rarely seen together. (A PFO exists in everyone’s heart in utero but usually closes shortly a er birth.)

How was her condition misdiagnosed? “ e appearance on the CT scan looked like a mass that was read as malignant, but it was really her stomach and other abdominal organs migrating upward through the ruptured diaphragm,” Partin says.

“ is was a case of a di cult diagnostic dilemma being solved quickly and having the process work as well as could possibly be imagined,” Partin says. ■

Predicting kidney disease before damage is done

Known as a silent killer, chronic kidney disease often causes severe organ damage before symptoms such as blood in the urine, swollen hands and feet, and excessive thirst even develop. But researchers have identi ed a common protein in the blood, measured by a simple test, that can reliably predict a person’s risk of developing kidney disease months, even years, before serious damage occurs.

High levels of suPAR, or soluble urokinase-type plasminogen activator receptor, a circulating protein in the blood, can be an indicator of future kidney disease, much like cholesterol and blood pressure levels help predict heart disease.

“For the past century, doctors have relied on creatinine levels and urine protein levels to detect and monitor kidney disease,” says Salim Hayek, a lead author on the paper and a cardiology research fellow at Emory. “ ese markers are useful in diagnosing kidney disease but are not helpful in predicting whether a person might develop disease in the future.”

Rush University Medical Center, Harvard Medical School, NYU Langone Medical Center, and John H. Stroger, Jr. Hospital of Cook County collaborated with Emory on the paper, which appeared in the New England Journal of Medicine in November. ■

Skills for parenting children with autism

Managing disruptive behavior in children with autism spectrum disorder (ASD) can be frustrating. But helping parents to both understand what triggers certain behaviors and how best to respond can make a huge di erence for families. A study published in the Journal of the American Medical Association in April found that parent training was much more e ective in reducing disruptive and aggressive behavior than parent education alone. e study involved 180 children ages 3 to 7 with ASD at Emory and ve other sites. It is the largest behavioral intervention study of its kind and builds on a decade of work, notes Lawrence Scahill, study director and professor of pediatrics at the Marcus Autism Center and the School of Medicine. e years of preparation paid o . “Over six months, we found that parents can improve their child’s behavior problems and improve their daily living skills,” says collaborator Karen Bearss, assistant professor of pediatrics. Subjects were randomly divided into two groups: parent training and parent education. Parents in the training group attended a dozen one-on-one sessions with a therapist to learn techniques for managing their child’s behavior—everything from tantrums and aggression to self-injury and noncompliance. Parents in the education group learned information about autism but no techniques. By the end, 70 percent of children with parents in the training group had improved their behavior versus 40 percent of children with parents in the education group. “ e lives of the children were dramatically improved in both groups, but parent training was clearly superior,” Scahill says. ■

Dangers of dietary supplements

An estimated 23,000 emergency room visits each year are attributed to adverse events related to dietary supplements, according to a study published in the New England Journal of Medicine

■ The most common event involved heart problems related to weight-loss or energy products among young adults 20 to 34 years old.

■ Another danger was unsupervised ingestion of supplements by children.

■ Among adults ages 65 and older, swallowing problems, such as choking on supplement pills, were an issue.

Lead author Andrew Geller of the Department of Rehabilitation Medicine at Emory, who is also a medical officer with the CDC, used surveillance data from 63 emergency departments from 2004 to 2013. “These data are important because dietary supplements are presumed to be safe and are regulated differently from over-the-counter or prescription products,” Geller says. “Unlike pharmaceuticals, which have to demonstrate both benefits and safety, dietary supplements can be sold without that information. Perhaps these findings can help target interventions to reduce safety risks.” ■